rs753345594, MRPS22

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
OVARIAN DYSGENESIS 7
CUI: C4748263
Disease: OVARIAN DYSGENESIS 7
2 0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.800 0
46, XX Gonadal Sex Reversal
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
1 0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 1 2018 2018
Pure Gonadal Dysgenesis, 46, XX
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
1 0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 1 2018 2018
Ovarian Failure, Premature
CUI: C0085215
Disease: Ovarian Failure, Premature
115 0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2018 2018